Neutrophil Immunodeficiency Syndrome

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Neutrophil Immunodeficiency Syndrome

MalaCards integrated aliases for Neutrophil Immunodeficiency Syndrome:

Name: Neutrophil Immunodeficiency Syndrome 54 24 56 71 29 13 69
Neuid 71


Orphanet epidemiological data:

neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;


Orphanet: 56  
Rare immunological diseases

External Ids:

OMIM 54 608203
Orphanet 56 ORPHA183707
UMLS via Orphanet 70 C1842398
ICD10 via Orphanet 34 D71
MedGen 40 C1842398
MeSH 42 D007153
SNOMED-CT via HPO 65 111583006 234532001

Summaries for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot : 71 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

MalaCards based summary : Neutrophil Immunodeficiency Syndrome, also known as neuid, is related to muscular dystrophy, congenital, megaconial type, and has symptoms including immunodeficiency, poor wound healing and leukocytosis. An important gene associated with Neutrophil Immunodeficiency Syndrome is RAC2 (Ras-Related C3 Botulinum Toxin Substrate 2 (Rho Family, Small GTP Binding Protein Rac2)), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Lamivudine and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, liver and eye.

Wikipedia : 72 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2... more...

Description from OMIM: 608203

Related Diseases for Neutrophil Immunodeficiency Syndrome

Diseases related to Neutrophil Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, megaconial type 9.5 RAC2 RHOD

Symptoms & Phenotypes for Neutrophil Immunodeficiency Syndrome

Clinical features from OMIM:


Human phenotypes related to Neutrophil Immunodeficiency Syndrome:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 poor wound healing 56 32 hallmark (90%) Very frequent (99-80%) HP:0001058
3 leukocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001974
4 abnormality of neutrophil physiology 56 32 hallmark (90%) Very frequent (99-80%) HP:0011990

Drugs & Therapeutics for Neutrophil Immunodeficiency Syndrome

Drugs for Neutrophil Immunodeficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Sorbitol Approved Phase 4 50-70-4 5780
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Ribavirin Approved Phase 4,Phase 3 36791-04-5 37542
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
7 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
12 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
14 Cathartics Phase 4
15 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
16 Laxatives Phase 4
17 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
18 Epoetin alfa Phase 4,Phase 1 113427-24-0
19 Hematinics Phase 4,Phase 1
20 Interferon-alpha Phase 4,Phase 1
21 interferons Phase 4,Phase 3,Phase 2,Phase 1
22 Interferon-gamma Phase 4,Phase 2,Phase 1
23 Nicotinic Acids Phase 4
24 Vitamin B3 Nutraceutical Phase 4
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
Lopinavir Approved Phase 3 192725-17-0 92727
Ritonavir Approved, Investigational Phase 3,Phase 2,Phase 1 155213-67-5 392622
Ganciclovir Approved, Investigational Phase 3,Phase 1 82410-32-0 3454
alemtuzumab Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 216503-57-0
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
32 tannic acid Approved, Nutraceutical Phase 3
33 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2,Phase 1
34 HIV Protease Inhibitors Phase 3,Phase 2,Phase 1
protease inhibitors Phase 3,Phase 2,Phase 1
36 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2,Phase 1
37 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
38 HIV Integrase Inhibitors Phase 3
39 Integrase Inhibitors Phase 3
40 Raltegravir Potassium Phase 3
Tenofovir Phase 3 147127-20-6 464205
42 Ganciclovir triphosphate Phase 3,Phase 1
43 Atazanavir Sulfate Phase 3
44 Liver Extracts Phase 3,Phase 1,Phase 2
Didanosine Approved Phase 2,Phase 1 69655-05-6 50599
Lenograstim Approved Phase 2,Phase 1 135968-09-1
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
Fludarabine Approved Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
Saquinavir Approved, Investigational Phase 2 127779-20-8 60787
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657

Interventional clinical trials:

(show top 50) (show all 60)

id Name Status NCT ID Phase Drugs
1 A Phase IV, Open Label, 4-period Cross-over Study to Investigate a Drug Interaction Between Lamivudine and Sorbitol Oral Solutions in Healthy Volunteers Completed NCT02634073 Phase 4 Lamivudine;Sorbitol
2 Viral Kinetics of Treatment With Peginterferon Alpha-2a, Ribavirin and Epoetin β in Patients Coinfected HCV/HIV Completed NCT00356486 Phase 4 Peginterferon alfa-2a, Ribavirin, epoetin-β;Peginterferon alfa-2a + Ribavirin for 12 weeks
3 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
4 Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin Terminated NCT00194857 Phase 4 erythropoietin, GCSF
5 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3 lopinavir/ritonavir (LPV/r);emtricitabine/tenofovir disoproxil fumarate (FTC/TDF);raltegravir (RAL)
6 Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis Completed NCT00002070 Phase 3 Sargramostim;Ganciclovir
7 BMS-Reyataz Study in Treatment in Naive Subjects to Compare the Efficacy and Safety Between Boosted Reyataz and Kaletra When in Combination With Fixed Dose Truvada Completed NCT00272779 Phase 3 ATV;RTV;Tenofovi-Emtricitabine (TDF/FTC) tablet;LPV
8 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3 T-Cell Depleted & CD34+Select/w/StemCell Enriched Product
9 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Benefit Subjects With Hepatitis C Liver Disease Completed NCT00529568 Phase 3 eltrombopag;placebo
10 Efficacy, Safety and Tolerability Study of Long-acting Cabotegravir Plus Long-acting Rilpivirine (CAB LA + RPV LA) in Human-immunodeficiency Virus-1 (HIV-1) Infected Adults Not yet recruiting NCT03299049 Phase 3 Cabotegravir Tablets;Rilpivirine Tablets;Cabotegravir Injectable Suspension;Rilpivirine Injectable Suspension
11 Study Of Chemokine Coreceptor 5 (CCR5) Antagonist GW873140 In R5-Tropic Treatment-Experienced HIV-Infected Subjects Terminated NCT00197145 Phase 3 GW873140
12 Phase II/III Study of the Tolerance and Efficacy of Combined Use of Didanosine (2',3'-Dideoxyinosine; ddI) and Lentinan in HIV-Positive Patients Unknown status NCT00002099 Phase 2 Lentinan;Didanosine
13 A Randomized, Controlled, Multicenter Trial of Filgrastim (Recombinant-Methionyl Human Granulocyte Colony Stimulating Factor; G-CSF) for the Prevention of Grade 4 Neutropenia in Patients With HIV Infection. Completed NCT00002126 Phase 2 Filgrastim
14 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
15 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
16 A Study of Invirase (Saquinavir)/Ritonavir in HIV-Infected Infants and Children. Completed NCT00623597 Phase 2 ritonavir;saquinavir [Invirase]
17 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
18 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
19 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
20 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
21 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
22 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
23 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Active, not recruiting NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
24 Gene Therapy in Treating Patients With Human Immunodeficiency Virus-Related Lymphoma Receiving Stem Cell Transplant Suspended NCT02797470 Phase 1, Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan
25 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
26 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2 Infliximab
27 Foscarnet Treatment of Serious CMV Retinitis Infection in Patients With Acquired Immunodeficiency Syndrome Completed NCT00000726 Phase 1 Foscarnet sodium
28 An Open-Label Phase I/II Study of Recombinant Granulocyte Colony Stimulating Factor (r-metHuG-CSF) and Recombinant Erythropoietin (rHuEPO) Given Subcutaneously Along With Zidovudine (AZT) to Patients With the Acquired Immune Deficiency Syndrome (AIDS) or Completed NCT00002255 Phase 1 Filgrastim;Epoetin alfa;Zidovudine
29 AMD 3100 for Treatment of Myelokathexis Completed NCT01058993 Phase 1 AMD3100 or plerixafor
30 Phase I/II Study of Recombinant Human Interferon-gamma (rIFN-gamma) in HIV-Infected Children Completed NCT00000761 Phase 1 Interferon gamma-1b
31 A Phase I/II Pilot Study of Simultaneously Administered Rhu GM-CSF ( CHO Cell ) and Azidothymidine ( AZT ) in Patients With Severe HIV Infection and Leukopenia: Pharmacokinetics and Feasibility Completed NCT00002006 Phase 1 Zidovudine;Sargramostim
32 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
33 A Phase I/II Open Label Study To Evaluate the Antiviral Potential of Combination Low-Dose Therapy With Zidovudine and Interferon-Alpha 2A in Patients With Symptomatic HIV Disease Completed NCT00000696 Phase 1 Interferon alfa-2a;Zidovudine
34 Phase I/II Study of the Tolerance and Efficacy of Combined Use of Didanosine (2',3'-Dideoxyinosine; ddI) and Lentinan in HIV-Positive Patients Completed NCT00002098 Phase 1 Lentinan;Didanosine
35 A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy Completed NCT00000673 Phase 1 Ganciclovir
36 A Phase I Trial of Recombinant Human Granulocyte-Macrophage Colony Stimulating Factor (rHuGM-CSF), Recombinant Alpha Interferon and Azidothymidine (AZT) in AIDS-Associated Kaposi's Sarcoma Completed NCT00000694 Phase 1 Interferon alfa-2b;Zidovudine;Sargramostim
37 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
38 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
39 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1 Mozobil (TM)
40 A Two-part Study to Compare a Tablet and Capsule Formulation of GSK2838232 With and Without Food, and to Assess the Safety and Drug Levels of Repeated Once-daily Doses of GSK2838232 Without Ritonavir Recruiting NCT03234036 Phase 1 GSK2838232 100 mg tablet;GSK2838232 50 mg capsule;Ritonavir 100 mg tablets;Placebo for GSK2838232 tablets
41 URMC Related Haplo-identical Donor BMT Recruiting NCT02660281 Phase 1 Fludarabine;Pre-Stem Cell Infusion Cyclophosphamide;Pre-Stem Cell Infusion Mesna;Busulfan;Melphalan;Post-Stem Cell Infusion Cyclophosphamide;Post-Stem Cell Infusion Mesna;Thiotepa
42 Effect of IFN-γ on Innate Immune Cells Active, not recruiting NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
43 Gene-Modified HIV-Protected Stem Cell Transplant in Treating Patients With HIV-Associated Lymphoma Suspended NCT02378922 Phase 1
44 Intensive Pharmacokinetics of the Nelfinavir-Rifabutin Interaction in Patients With HIV-Related Tuberculosis Treated With a Rifabutin-Based Regimen Unknown status NCT00018083 rifabutin;isoniazid;efavirenz
45 PENTA Fosamprenavir Study Completed NCT01077635 Exposure to licensed dose of FPV (+/- 20% of 18mg/kg BID + RTV)
46 Exercise, Oxidative Stress and HIV Completed NCT00950937
47 The Safety and Effectiveness of Ganciclovir Used Alone or in Combination With Granulocyte-Macrophage Colony Stimulating Factor in the Treatment of Cytomegalovirus (CMV) of the Eye in Patients With AIDS Completed NCT00000989 Zidovudine;Sargramostim;Ganciclovir
48 Pneumocystis in Pathogenesis of HIV-associated Emphysema Completed NCT00869544
49 Investigation of Dental Health in Children With Neutrophil Defects: A Clinical Study Recruiting NCT03069079
50 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Neutrophil Immunodeficiency Syndrome

Genetic Tests for Neutrophil Immunodeficiency Syndrome

Genetic tests related to Neutrophil Immunodeficiency Syndrome:

id Genetic test Affiliating Genes
1 Neutrophil Immunodeficiency Syndrome 29 24 RAC2

Anatomical Context for Neutrophil Immunodeficiency Syndrome

MalaCards organs/tissues related to Neutrophil Immunodeficiency Syndrome:

Neutrophil, Liver, Eye

Publications for Neutrophil Immunodeficiency Syndrome

Articles related to Neutrophil Immunodeficiency Syndrome:

id Title Authors Year
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. ( 10758162 )

Variations for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Neutrophil Immunodeficiency Syndrome:

id Symbol AA change Variation ID SNP ID
1 RAC2 p.Asp57Asn VAR_017452 rs74315507

ClinVar genetic disease variations for Neutrophil Immunodeficiency Syndrome:

id Gene Variation Type Significance SNP ID Assembly Location
1 RAC2 NM_002872.4(RAC2): c.169G> A (p.Asp57Asn) single nucleotide variant Pathogenic rs74315507 GRCh37 Chromosome 22, 37628897: 37628897

Expression for Neutrophil Immunodeficiency Syndrome

Search GEO for disease gene expression data for Neutrophil Immunodeficiency Syndrome.

Pathways for Neutrophil Immunodeficiency Syndrome

Pathways related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
Show member pathways
12.44 RAC2 RHOD
Show member pathways
12.42 RAC2 RHOD
Show member pathways
12.38 RAC2 RHOD
Show member pathways
12.34 RAC2 RHOD
Show member pathways
12.28 RAC2 RHOD
Show member pathways
12.24 RAC2 RHOD
Show member pathways
12.2 RAC2 RHOD
Show member pathways
12.18 RAC2 RHOD
Show member pathways
11.78 RAC2 RHOD
10 11.61 RAC2 RHOD
Show member pathways
11.37 RAC2 RHOD
12 11.3 RAC2 RHOD
13 11.22 RAC2 RHOD
14 10.89 RAC2 RHOD
15 10.28 RAC2 RHOD

GO Terms for Neutrophil Immunodeficiency Syndrome

Biological processes related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 8.96 RAC2 RHOD
2 regulation of small GTPase mediated signal transduction GO:0051056 8.62 RAC2 RHOD

Molecular functions related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 8.96 RAC2 RHOD
2 GTPase activity GO:0003924 8.62 RAC2 RHOD

Sources for Neutrophil Immunodeficiency Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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